Activity
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| Fetal anomalies v6.152 | CCT8 | Arina Puzriakova Added phenotypes Brain malformations, intellectual disability, and seizures for gene: CCT8 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.148 | CCT8 | Arina Puzriakova commented on gene: CCT8: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.147 | CCT8 | Stephanie Allen reviewed gene: CCT8: Rating: AMBER; Mode of pathogenicity: ; Publications: 39480921; Phenotypes: Brain malformations, intellectual disability, and seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.29 | CCT8 | Arina Puzriakova reviewed gene: CCT8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.28 | CCT8 | Sarah Graham commented on gene: CCT8: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.24 | CCT8 | Sarah Graham reviewed gene: CCT8: Rating: AMBER; Mode of pathogenicity: ; Publications: 39480921; Phenotypes: CCT8-related neurodevelopmental disorder with brain abnormalities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.21 | CCT8 |
Arina Puzriakova gene: CCT8 was added gene: CCT8 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: CCT8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CCT8 were set to 39480921 Phenotypes for gene: CCT8 were set to CCT8-related neurodevelopmental disorder with brain abnormalities |
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